NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) AND Proteasome-associated autoinflammatory syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000554127.8
Allele description [Variation Report for NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)]
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)
Condition(s)
- Name:
- Proteasome-associated autoinflammatory syndrome 1 (PRAAS1)
- Synonyms:
- Nakajo syndrome; Nodular erythema digital changes; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0054698; MedGen: C4746851; Orphanet: 2615; Orphanet: 324977; Orphanet: 324999; Orphanet: 325004; OMIM: 256040
Assertion and evidence details
Last Updated: Sep 29, 2024